Varaico: Literature-Extracted Genetic Variants

JUP

400 papers

RefSeq Summary

This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes w...

Pfam Domains

Armaa 215–255UCSCArmadillo/beta-catenin-like repeat

Armaa 341–381UCSCArmadillo/beta-catenin-like repeat

Armaa 573–613UCSCArmadillo/beta-catenin-like repeat

Gene Aliases

HGNC Name

junction plakoglobin

HGNC Previous Symbol

CTNNG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_002230.4

p.R176W

c.526C>T

Surrounding Variants

3 papers

NM_002230.4

p.R176Q

c.527G>A

2 papers

NM_002230.4

p.R177W

c.529C>T

2 papers

NM_002230.4

p.R177Q

c.530G>A

1 paper

NM_002230.4

p.A174V

c.521C>T

1 paper

NM_002230.4

p.A178fs

c.532_533fs

1 paper

NM_002230.4

p.A178V

c.533C>T

1 paper

NM_002230.4

p.G181V

c.542G>T

1 paper

NM_002230.4

p.S170L

c.509C>T

1 paper

NM_002230.4

p.A178_G181delFs

c.532_542del11

2 papers

NM_002230.4

p.S182L

c.545C>T

2 papers

NM_002230.4

p.S182*

c.545C>A

1 paper

NM_002230.4

p.S182S

c.546G>A